Expert: the state will pay for DNA tests for planning children

Artyom Elmuratov, one of the co-founders of the company Genotek, told RIA of «news» about how genetic research will become the basis of Russian medicine in the coming years, as it will solve the problem of rare diseases and improve the lives of people with disabilities, and how the government and private companies will implement it.

The company Genotek is one of the first and most major biomedical corporations involved in genetic testing and DNA analysis. According to the press service, Genotek the only one in Russia offers genome sequencing, and carried out in the company’s DNA tests have helped to save the lives of some hundreds of people suffering from rare diseases.

This week representatives Genotek and other biomedical and pharmaceutical companies presented HealthNet, a «road map» for the development of personalized medicine and biotech services, improve the quality of life and health of Russians from 2016 to 2035. One of its key elements, as told by Elmuratov can become free genetic tests for couples wishing to have a child while living in separate regions of Russia or at-risk.

This, according to him, will not only improve the health of Russians, but also allow more efficient use of funds which the government allocates to support people with disabilities. According to the calculations Genotek, screening before pregnancy, at the stage of planning, will help to cut state costs at the expense of rapid diagnosis, timely treatment of rare diseases and reducing their prevalence among the population of the Russian Federation.

— The main issue that we discussed today – the adoption of the roadmap HealthNet within the framework of the National technology initiative. All ten cards that are accepted in the framework of the NTI cover the areas of business and technology, which are considered today the markets of the future and who will take a huge share of the economy by 2035. The Russian company, as planned, the government should take a key role in these markets.

Looking ahead, I can say that the discussion HealthNet ended positively, and the draft map was approved. We AGCT St. Petersburg company involved in the editing of the genome for the treatment of HIV, we presented our projects that can be implemented in the framework of the roadmap.

We are, first and foremost, interested in diagnosis of hereditary diseases and how these methods can help in family planning for people at risk. We announced at the meeting that we will develop this direction in the framework of the pilot projects in the regions of Russia.

In addition, we are working together with the Institute of General genetics of RAS on development of technologies that will allow you to pick therapy for treating cancer in accordance with those mutations that are present in the tumor. We told Mr Medvedev about bioinformatics, and asked the Commission to support the road map.

— Would not such sequencing to increase the number of disabled and the load on the budget? Will the government «shoot itself in the foot», figuratively speaking?

In my opinion, the load will actually decrease, if conducting such surveys among risk groups. The cost of genetic studies among couples who already have children with genetic diseases will be lower costs for the Federal and regional budget for treatment and maintenance of disabled children that would be born in these families.

There are two ways – parents give birth to a disabled child, he find a hereditary disease, and the state is obliged to treat him at his own expense for many years, or a survey of them is a mutation, and they are either undergo prenatal diagnosis or preimplantation diagnosis with artificial insemination. Treatment costs a lot of money, and testing helps to reduce these costs. I faced a similar opinion of our officials, but we must understand that these diseases will not disappear, and the children will need still to be treated.

— Besides money, for the implementation of such projects requires skilled personnel. Will there be enough of them in Russia, especially in small towns and villages, for the implementation of this task?

— It should be understood that we do not offer to sequence the DNA of all children born today or will be born tomorrow or in the distant future. We’re talking about testing only the certain part of the population that is at risk under certain criteria. If we’re sequencing only risk, then we will have maximum financial returns from the perspective of the state, and if you do research absolutely all couples planning a pregnancy, the benefit of this action is not quite obvious, and most likely it is not at all.

Therefore, we do not promote such projects, especially in this amount of data logistics and analysis, it is possible to just choke. What we say and plan to do in 2017 – screening for risk groups, primarily for families in which there are cases of infantile or early mortality with unclear reasons or those couples who live in regions with high genetic load in the form of, for example, closely related marriages.

Here, actually, not such a large flow of people in the regions you can build a chain of centres of genetic diagnosis, where you will be sequencing large numbers of DNA samples. Overall, and done in the world – in other countries, including the United States, there are large sequencing centers where samples are brought in from virtually all States. Large lab allow you to make the sequencing more efficient and available, if you don’t speed this procedure. Do not need to buy the sequencer in every village.

— How in General can help similar procedure, problem families, of which you speak?

— Pregnancy loss, infant mortality and mortality at an early age, say 4-5 years is a tragedy for the family. Often parents do not know why the child did not survive, build different assumptions, the most common of them: an unknown infection or medical error. Often parents blame themselves. In fact, could be a situation that no one could affect: genetic mutation associated with this disease, which did not allow the child to survive. There are ethical side of the issue: often families who have lost a child or are raising children with disabilities, disintegrate. This measure will help to solve many problems preemptively.

There are families in which children develop hereditary diseases, but people do not know about, as they have no opportunity to establish an accurate diagnosis or understand this disease is hereditary or not. Then they give birth to another child, and again becomes disabled due to these defects.

And there is a third group of families in which a child with genetic problems that are actually not caused by hereditary factors, and newly acquired mutations, which his parents no. After such cases, couples become afraid to give birth to another child, although in reality it was sporadic and completely random case. Therefore, sequencing technology can help parents not to be afraid to have children.

— If you run a bit into the future – is it still possible and advisable from a genetic or medical point of view, sequencing the DNA of embryos at the earliest stages of their development?

— Today there are such tests? Take the amniotic fluid which is an invasive procedure, and its side effects can cause miscarriage. So just because the tests are not carried out – this requires a good reason, including getting into the risk group.

The good news is that to go into the womb to conduct such tests not necessarily. Fetal DNA gets into the blood of a pregnant woman, and the last few years to develop techniques that allow blood to sequence and isolate it from the genome of the child, based on the fact that it contains blood much less than the mother’s DNA.

The problem is that we now can find likewise quite a limited list of pathologies, but the methods are improving, and over time more and more hereditary diseases and chromosomal abnormalities can be looked for in this way.

Now we are working on this technique and work on improving it, and are working to optimize the process in order for the test to cheap. At current prices it costs about 30 thousand rubles – it is unlikely to be implemented for everyone, but if it will drop three times, then it can be included in the MHI system. Prices are reduced, how quickly will this decline is another question.

— When it comes to DNA, the genome sequencing and other things, many people in Russia react to all this negatively. What, in your opinion, is this reaction?

— I honestly don’t know how much better or worse in our country relate to genetics compared to the world as a whole, I can only assume that the negative reaction may have historical reasons.

In Soviet times, genetics were persecuted, and it was not so long ago, and maybe that the story of GMOs has all the genetics in General. Here, actually, the problem is lack of awareness among people.

The Foundation «Evolution», for example, held in Kazan, the survey on genetics. In its framework people have asked whether GMOs are harmful, and the majority say «Yes» whether to label GMOs, too, the majority said «Yes», do I need to label all food that contains genes – and here again the majority said «Yes, because it’s dangerous.» Why are they afraid of? They don’t always know what it is, and all of the unknown is scary. That’s probably why.

— How deeply religious people look at such problems, have you faced any opposition to such tests from them?

— Today, some types of biochemical screening are free to all pregnant women and recently delivered mothers. As far as I know, the percentage of failures is very small, even among believers patients. Of course, cases of this are, but this is an isolated incident and a unique situation.

These questions will be separately discussed with the doctors and geneticists from the regions, and overall, they say that many religious people first have a negative attitude to such tests, however, if you explain to them why this is necessary, they undergo all the necessary procedures and tests. The main thing here, it’s all very well and happy to explain.

There is a vivid example of positive interaction of religious communities and geneticists. The Jewish community in the United States, Canada and Israel are an example of how religion and genetics are helping each other. 70 years in the communities of Ashkenazi Jews, it was decided to carry out genetic screening to determine whether their members are carriers of the genes associated with the disease Tay-Sachs. It is a hereditary disease that leads to early death and disability.

Through their interaction with scientists, the incidence of this disease, which was previously called the «Jewish disease», is now lower among Jews in America than among non-Jews, because of the tests that has been done over the last thirty years. In Israel, the most religious country in the world, any couple can undergo tests for the disease Tay-Sachs and several other diseases.

In addition, similar programs are in Iran, Saudi Arabia and many other Islamic countries is testing for beta-thalassemia, a serious genetic blood disorder. So I think science and religion can agree.

— In the cult film «Gattaca» describes a situation in which genetic technologies has led to the development of biological apartheid. Wouldn’t the development of DNA sequencing technologies of the embryo to the fact that the parents will abandon the children or to carry out abortions if they’re not going to do that?

All of course depends on us, on society as a whole. Companies and scientists here play a secondary role, as they fulfill the demands of society. I want to believe in the best and that people will not go too far in the use of these technologies.

On the other hand, experience shows that where this occurs, a regulation from the government. For example, in China many parents are tempted to choose the gender of your baby with artificial insemination, and similar research in China is prohibited by law. On the other hand, DNA diagnosis can be conducted in China for medical reasons.

In Russia during the IVF procedure, as far as I know, is also impossible to come to the clinic and order your boy or girl, this can be done only if necessary for medical reasons, for example if there is the likelihood of developing diseases associated with sex chromosomes.

Of course, I admit that there may be clandestine clinics where this can be done, but on the official level, this is unlikely to happen. I don’t think we will reach the point when many parents start to do something like that.